Variant report

Variant	rs374475142
Chromosome Location	chr6:147524752-147524753
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr6:147523374-147526232	H1-neurons	neurons:	n/a	chr6:147525376-147525389
2	MAZ	chr6:147523081-147526390	K562	blood:	n/a	n/a
3	RAD21	chr6:147524147-147525102	SK-N-SH_RA	brain:	n/a	n/a
4	IRF1	chr6:147522768-147525022	K562	blood:	n/a	n/a
5	POLR2A	chr6:147523534-147526020	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr6:147523481-147525022	Hela-S3	cervix:	n/a	chr6:147523834-147523844
7	SMC3	chr6:147523692-147525036	Hela-S3	cervix:	n/a	chr6:147524847-147524857
8	ZBTB7A	chr6:147524593-147525302	K562	blood:	n/a	n/a
9	CTCF	chr6:147524620-147524770	AG04449	skin:	n/a	n/a
10	POLR2A	chr6:147522937-147526034	K562	blood:	n/a	n/a
11	TAF1	chr6:147524436-147525235	K562	blood:	n/a	n/a
12	MAX	chr6:147523500-147525253	MCF-7	breast:	n/a	n/a
13	HCFC1	chr6:147523021-147525697	K562	blood:	n/a	n/a
14	MAX	chr6:147523514-147525872	K562	blood:	n/a	n/a
15	POLR2A	chr6:147524553-147525250	HUVEC	blood vessel:	n/a	n/a
16	SIN3AK20	chr6:147523469-147525845	PANC-1	pancreas:	n/a	n/a
17	ZNF143	chr6:147523104-147525159	GM12878	blood:	n/a	chr6:147523629-147523638 chr6:147523631-147523640 chr6:147523629-147523647
18	HA-E2F1	chr6:147524663-147525546	Hela-S3	cervix:	n/a	chr6:147525392-147525402 chr6:147525389-147525399 chr6:147524825-147524834 chr6:147525386-147525396
19	POLR2A	chr6:147524532-147525370	ECC-1	luminal epithelium:	n/a	n/a
20	SIN3A	chr6:147523596-147524866	GM12878	blood:	n/a	n/a
21	MAX	chr6:147524512-147525167	SK-N-SH	brain:	n/a	n/a
22	CHD2	chr6:147523175-147525079	GM12878	blood:	n/a	chr6:147523834-147523844
23	POLR2A	chr6:147523562-147525855	Gliobla	brain:	n/a	n/a
24	TEAD4	chr6:147522895-147525167	K562	blood:	n/a	n/a
25	POLR2A	chr6:147524706-147525859	GM12878	blood:	n/a	n/a
26	UBTF	chr6:147523633-147526451	K562	blood:	n/a	n/a
27	TBP	chr6:147524608-147525868	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr6:147524741-147525118	GM12891	blood:	n/a	n/a
29	TAL1	chr6:147523054-147524988	K562	blood:	n/a	n/a
30	MAX	chr6:147523013-147525173	ECC-1	luminal epithelium:	n/a	n/a
31	TRIM28	chr6:147522956-147524903	K562	blood:	n/a	chr6:147524405-147524413
32	ATF3	chr6:147524738-147525057	HepG2	liver:	n/a	n/a
33	POLR2A	chr6:147523601-147525003	K562	blood:	n/a	n/a
34	POLR2A	chr6:147524468-147525216	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr6:147523072-147526476	Hela-S3	cervix:	n/a	n/a
36	MYBL2	chr6:147524348-147525108	HepG2	liver:	n/a	n/a
37	RAD21	chr6:147523131-147526026	IMR90	lung:	n/a	n/a
38	MXI1	chr6:147523062-147525873	IMR90	lung:	n/a	chr6:147523964-147523973
39	GTF2B	chr6:147524475-147525000	K562	blood:	n/a	n/a
40	NRF1	chr6:147524638-147524988	K562	blood:	n/a	chr6:147524821-147524835 chr6:147524824-147524838 chr6:147524826-147524835 chr6:147524824-147524835 chr6:147524824-147524835 chr6:147524824-147524833
41	ELF1	chr6:147523147-147524960	HCT-116	colon:	n/a	n/a
42	ARID3A	chr6:147524603-147524990	HepG2	liver:	n/a	n/a
43	POLR2A	chr6:147523101-147525939	GM18505	blood:	n/a	n/a
44	POLR2A	chr6:147523500-147526423	K562	blood:	n/a	n/a
45	POLR2A	chr6:147524588-147525225	HCT-116	colon:	n/a	n/a
46	POLR2A	chr6:147523491-147526020	H1-neurons	neurons:	n/a	n/a
47	PAX5	chr6:147524712-147525296	GM12892	blood:	n/a	n/a
48	TCF7L2	chr6:147523557-147525299	HCT-116	colon:	n/a	n/a
49	YY1	chr6:147524631-147525340	K562	blood:	n/a	chr6:147524779-147524790
50	POLR2A	chr6:147522918-147526334	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:147177851..147181465-chr6:147522179..147525344,4	K562	blood:
2	chr6:147229677..147239083-chr6:147521152..147530893,22	K562	blood:
3	chr6:147475725..147486468-chr6:147521132..147528058,22	K562	blood:
4	chr6:135817566..135820390-chr6:147524276..147525845,2	K562	blood:
5	chr6:147477631..147490692-chr6:147521132..147530003,24	K562	blood:
6	chr6:147478214..147481987-chr6:147524471..147526667,3	MCF-7	breast:
7	chr6:147178857..147181755-chr6:147524235..147526085,2	MCF-7	breast:
8	chr6:147454410..147457334-chr6:147523765..147525328,2	MCF-7	breast:
9	chr6:147232346..147237544-chr6:147521050..147527983,13	K562	blood:
10	chr6:147231935..147237791-chr6:147522176..147527834,11	MCF-7	breast:
11	chr6:147233166..147237387-chr6:147522685..147525854,6	MCF-7	breast:

Variant related genes	Relation type
STXBP5-AS1	TF binding region
STXBP5	TF binding region
ENSG00000196634	Chromatin interaction
ENSG00000135541	Chromatin interaction
ENSG00000227748	Chromatin interaction
ENSG00000231028	Chromatin interaction
ENSG00000233452	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1820434	chr6:147518489-147543262	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3387409	chr6:147524059-147526607	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3338422	chr6:147524084-147526632	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147522800-147526200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
2	chr6:147522800-147528600	Active TSS	Duodenum Mucosa	Duodenum
3	chr6:147522800-147529000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:147523000-147524800	Active TSS	Right Atrium	heart
5	chr6:147523000-147525400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:147523000-147525400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:147523000-147525400	Active TSS	Brain Germinal Matrix	brain
8	chr6:147523000-147525600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:147523000-147525600	Active TSS	Fetal Brain Female	brain
10	chr6:147523000-147525800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:147523000-147525800	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr6:147523000-147526000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr6:147523000-147526000	Active TSS	Fetal Kidney	kidney
14	chr6:147523000-147526200	Active TSS	Colon Smooth Muscle	Colon
15	chr6:147523000-147526200	Active TSS	Esophagus	oesophagus
16	chr6:147523000-147526200	Active TSS	Fetal Lung	lung
17	chr6:147523000-147526200	Active TSS	Placenta Amnion	Placenta Amnion
18	chr6:147523000-147526400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:147523000-147526400	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr6:147523000-147526400	Active TSS	Stomach Mucosa	stomach
21	chr6:147523000-147526600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr6:147523000-147526800	Active TSS	Brain Substantia Nigra	brain
23	chr6:147523000-147526800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr6:147523000-147526800	Active TSS	Fetal Brain Male	brain
25	chr6:147523000-147527000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr6:147523000-147527000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:147523000-147527000	Active TSS	Fetal Stomach	stomach
28	chr6:147523000-147527000	Active TSS	Psoas Muscle	Psoas
29	chr6:147523000-147527000	Active TSS	Rectal Smooth Muscle	rectum
30	chr6:147523000-147527000	Active TSS	Thymus	Thymus
31	chr6:147523000-147527000	Active TSS	GM12878-XiMat	blood
32	chr6:147523000-147527000	Active TSS	NH-A	brain
33	chr6:147523000-147527200	Active TSS	Colonic Mucosa	Colon
34	chr6:147523000-147527200	Active TSS	A549	lung
35	chr6:147523000-147527400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr6:147523000-147527400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:147523000-147527400	Active TSS	Fetal Intestine Small	intestine
38	chr6:147523000-147527600	Active TSS	Fetal Intestine Large	intestine
39	chr6:147523000-147527800	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr6:147523000-147528000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr6:147523000-147528600	Active TSS	Brain Cingulate Gyrus	brain
42	chr6:147523000-147528800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:147523000-147528800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:147523000-147528800	Active TSS	Brain Anterior Caudate	brain
45	chr6:147523000-147528800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr6:147523000-147529000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:147523000-147529200	Active TSS	NHLF	lung
48	chr6:147523000-147529600	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr6:147523000-147529600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:147523000-147529800	Active TSS	Breast Myoepithelial Primary Cells	Breast

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